About Us

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Jesse

Our journey began many years ago after my fourth child was born. Shortly after his birth he became very ill and passed away at three days of age. I was devastated at the loss of Jesse as it was particularly difficult because all my other children were healthy and unaffected.

After much testing, an autopsy ultimately revealed that I was a carrier of a Urea Cycle Disorder, specifically OTC (Ornithine TransCarbamylase Deficiency). Not knowing what any of this even meant, having this type of tragedy strike left me feeling scared and completely vulnerable. I harbored much guilt for many years as if it was my fault my son had died. In an attempt to find out where this originated, further testing involving my family members concluded two things. None of my family members carried the gene, and, this was a new mutation that began with me. This news made it more difficult to bear and made me feel even more alone and desperate. I was diagnosed with OTC in 1990, and as many UCD patients may know, there was next to nothing regarding information on this pernicious disease back then. In feeling alone, I realized that I actually was alone.

Michael

In 1999 I became pregnant with Michael. As you may imagine when we found out it was a boy, my heart relived the horror once more. Michael was born and immediately had an episode of Hyperammonemia with his ammonia levels in high 600’s. Unable to bring them down, they rose into the 1000 range but experimental medication administered eventually brought them down. He remained hospitalized for weeks and at the suggestion of transplant surgeons, it was decided he would receive a liver transplant. He received his transplant December that year, but unfortunately, his little body wasn’t accepting it. He fought so hard and we had many scares which include the many instances we were called in the middle of the night to come quickly as it may be his last moments. His courageous and unrelenting fight continued for seven weeks.Michael passed away February 2000. It is difficult to put into words the pain involved, it never really goes away, but we have learned that it does get better.

ariella

Six years later, I became pregnant once more. We were having a girl. Since the passing of Michael there had been more awareness of UCD’s, and one thing we were told is that the survival rate was better for girls. Pinning our faith on this, our daughter Areilla was born. For the first six years of her life we relived much of the same experience with Michael. She was in and out of hospitals constantly. We have been across the entire country seeking help from the best doctors in their fields and finally landed with one in Southern California. During our quest to find physicians, we have participated in a study at the NIH (National Institute of Health) in Washington D.C., and have been in a drug study for HPN-100, which ultimately got FDA approval, to a longitudinal study at UCLA in California.

what we have learned

It has been a tough road but thanks to the better awareness, technology, genetic specialists, and FDA approved medications, she is a happy (and defiant) teenager. Today she is fourteen years old and we are so incredibly grateful for this precious gift from God. Obviously there are physical limitations with UCD’ers and we are still overcoming the challenges of raising a daughter with OTC.

For almost two decades there were only doctors to speak with. When I finally did find some of those affected, simply speaking to these few became an important healing process that ran both ways. This is something that we at Connecting Families wish to pass on to all with UCD’s because we understand exactly how alone this can make you feel. You are not alone!

We are not trying to convey that we know it all. We are aware that all cases are different, but having said that, we understand the devastation caused by this horrible disease. We wish to give others what was missing for us, someone who understands and can reach out with support. It is only through our faith and through advances made by spreading awareness that we were able to get this far. We have learned so much and continue to learn to this day. My daughter and I are both taking medication and amino acid modified medical foods.

Our journey will continue until there is a cure, and hope is only made complete in others seeing what is done for us all. We want to share that hope with the entire world of UCD patients and believe no one should be overlooked. In starting this foundation we are dedicating ourselves to bringing much needed support to the UCD community.

There is more to this story, as every day we thank God for another precious day. I would love to share with anyone who wants to know more. We will strive towards awareness, (medical and personal), education, and bringing hope to our UCD friends and families. Our desire is to bring us all together, no matter where you are, and with your support, we can continue Connecting Families all over the world.

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Connecting Families UCD Foundation

FYI Friday:The Overall Incidence of Urea Cycle Disorders is 1:35,000 births-but did you know that’s not your Individual Type Incidence once diagnosed? Your Individual Type Incidence is actually higher. Since there are basically 8 types of UCD, each has its own incidence of occurrence.

"How is that?” you ask. Here’s what those numbers mean:

Attached is a chart generated by a genetic counselor who studies UCD’s and they were gracious enough to pass along the chart for this community. Many people already know that Overall UCD Incidence is 1:35,000, but they sometimes confuse Overall Incidence with Individual Type Incidence.

For example, OTC, (the most common UCD), has an Individual Type Incidence of 1:56,500- not the 1:35,000 commonly known for being born with a UCD.Overall Incidence of 1:35,000 means for every 100,000 births, 2.86 babies will have a UCD. That means it could be any one of the 8 UCD types- it does not tell you which. If born with a UCD, chances of getting a specific type are referenced on the attached chart by row.

Do you know YOUR Individual Type Incidence? Take some time to look at the chart provided and find your Individual Type Incidence. We’ve added some additional figures to the chart to better put it in perspective.

So, if you have a Urea Cycle Disorder, the next time someone asks you the specific incidence of your UCD, remember it's not 1:35,000 because that’s the incidence of a child being born with any of 8 types of UCD. You are actually much "rarer" than you think. 🦓🦓🦓🦓🦓🦓🦓🦓Be Aware-Be Empowered! Have a great weekend,CFUCDF ... Click Here To See MoreSee Less

Flu season is upon the UCD community again and we wanted to mention a great resource for answering questions about this year’s vaccine.

Are there any new FDA approved treatments for the flu in 2018? What information is available regarding the 2018-2019 flu season? Where can I get a flu shot in my zip code? What are the different flu types? These (and so many more comprehensive) FAQ’s are addressed on the CDC website, which you can go to here:

While this website does not address how a vaccine applies to someone with a UCD, this is the most current information you can take to your metabolic team should you have any questions about this year’s vaccine specific to your UCD.

**On a personal note**Our daughter hates getting shots, so when she found this comic she immediately asked, “why do ‘I’ need one?” We leave you with the comic she found- the explaining part is up to you. Hope the resource helps!

Another great cooking event coming to Salt Lake City!!!!Great time to connect with others just like you 🤗 and “You” do the cooking.These are so fun and the food is always delicious. Take home all recipes too ❤️ ... Click Here To See MoreSee Less

UCD Family on Twitter

Today is Sweetest Day! Like Valentine's Day-but for the special "guys in our lives." CFUCDF wants to recognize all the amazing UCD Dad's, brothers, uncles, grandpa's, big brothers, and little brothers who care for those with a Urea Cycle Disorder. You're so needed and appreciated

Do you live in Ohio?
There is a cooking class scheduled to be in your area🤗
Meet family’s just like you and enjoy delicious low protein meals , get great recipes!!! Lots of fun 💕#ureacycledisorders#cfucdf